Variant report

Variant	rs16854997
Chromosome Location	chr1:179909385-179909386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179904151..179906218-chr1:179907740..179909540,2	MCF-7	breast:
2	chr1:179906513..179911873-chr1:179922155..179925771,5	K562	blood:
3	chr1:179909218..179916721-chr1:179922197..179926382,9	K562	blood:
4	chr1:179901208..179903839-chr1:179908885..179910627,2	K562	blood:
5	chr1:179877736..179879361-chr1:179907717..179909785,2	K562	blood:
6	chr1:179908000..179910722-chr1:179917793..179921003,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135837	Chromatin interaction
ENSG00000260360	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10494524	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12121845	1.00[JPT][hapmap]
rs12123201	0.84[ASN][1000 genomes]
rs12123560	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12124265	1.00[JPT][hapmap]
rs12125693	1.00[JPT][hapmap]
rs12130479	1.00[JPT][hapmap]
rs12130675	0.84[ASN][1000 genomes]
rs12132694	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12135751	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12139323	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12139412	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12140868	1.00[JPT][hapmap]
rs12141817	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12144275	0.84[ASN][1000 genomes]
rs12145411	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12184270	1.00[JPT][hapmap]
rs16843139	1.00[JPT][hapmap]
rs16855014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16855019	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16855021	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16855022	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16855025	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16855048	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16855049	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16855052	0.84[ASN][1000 genomes]
rs16855099	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16855103	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16855107	1.00[JPT][hapmap]
rs16855110	1.00[JPT][hapmap]
rs16855125	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16855130	1.00[JPT][hapmap]
rs16855144	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16855259	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16855268	1.00[JPT][hapmap]
rs16855286	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16855289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs3856048	0.84[ASN][1000 genomes]
rs41267622	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4278337	1.00[JPT][hapmap]
rs4460595	1.00[JPT][hapmap]
rs57165548	0.84[ASN][1000 genomes]
rs58316647	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58463801	0.84[ASN][1000 genomes]
rs58749862	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58844263	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60064848	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60895715	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60927554	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60976015	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61014689	0.84[ASN][1000 genomes]
rs73032352	0.84[ASN][1000 genomes]
rs73039990	0.84[ASN][1000 genomes]
rs73039999	0.84[ASN][1000 genomes]
rs73040001	0.84[ASN][1000 genomes]
rs7525395	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7556630	0.85[ASN][1000 genomes]
rs9699897	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179905800-179910600	Weak transcription	K562	blood
2	chr1:179906800-179909400	Enhancers	Hela-S3	cervix
3	chr1:179908600-179909400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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